Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1

Hamilton, M. J. et al. (2022) Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1. Neuromuscular Disorders, 32(5), pp. 377-389. (doi: 10.1016/j.nmd.2022.02.003) (PMID:35361525)

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Abstract

Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary polysomnography, symptom questionnaires and cognitive evaluation were undertaken in 39 DM1-affected individuals. Structural brain MRI was completed in those without contra-indication (n = 32). Polysomnograms were adequate for analysis in 36 participants. Sleep efficiency was reduced, and sleep architecture altered in keeping with previous studies. Twenty participants (56%) had moderate or severe sleep-disordered breathing (apnoea-hypopnoea index [AHI] ≥ 15). In linear modelling, apnoeas were positively associated with increasing age and male sex. AHI ≥ 15 was further associated with greater daytime pCO2 and self-reported physical impairment, somnolence and fatigue. Percentage REM sleep was inversely associated with cerebral grey matter volume, stage 1 sleep was positively associated with occipital lobe volume and stage 2 sleep with amygdala volume. Hippocampus volume was positively correlated with self-reported fatigue and somnolence. Linear relationships were also observed between measures of sleep architecture and cognitive performance. Findings broadly support the hypothesis that changes in sleep architecture and excessive somnolence in DM1 reflect the primary disease process in the central nervous system.

Item Type:Articles
Additional Information:This study was funded by grants from Muscular Dystrophy UK (Ref: MC3/1073) and Chief Scientist Office Scotland (Ref: CAF/MD/15/01). The Monckton group (University of Glasgow) also thank the Myotonic Dystrophy Support Group (UK) for their continued support.
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Longman, Dr Cheryl and Jampana, Dr Ravi and Evans, Professor Jonathan and Hamilton, Dr Mark and Ballantyne, Dr Bob and Monckton, Professor Darren and Cumming, Dr Sarah
Authors: Hamilton, M. J., Atalaia, A., McLean, J., Cumming, S., Evans, J. J., Ballantyne, B., Jampana, R., The Scottish Myotonic Dystrophy Consortium, , Longman, C., Livingston, E., van der Plas, E., Koscik, T., Nopoulos, P., Farrugia, M. E., and Monckton, D. G.
College/School:College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Mental Health and Wellbeing
College of Medical Veterinary and Life Sciences > School of Molecular Biosciences
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
College of Medical Veterinary and Life Sciences > School of Psychology & Neuroscience
Journal Name:Neuromuscular Disorders
Publisher:Elsevier
ISSN:0960-8966
ISSN (Online):1873-2364
Published Online:14 February 2022
Copyright Holders:Copyright © 2022 The Authors
First Published:First published in Neuromuscular Disorders 32(5): 377-389
Publisher Policy:Reproduced under a Creative Commons License

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
171804Structural CNS changes, neuropsychological impairment and sleep disturbance in type 1 Myotonic dystrophy - a genotype-phenotype studyDarren MoncktonMuscular Dystrophy UK (MUSCDYST)MC3/1073/3MCSB - Molecular Genetics